What question did this study set out to answer?

To describe a case of respiratory-onset amyotrophic lateral sclerosis associated with a C9orf72 expansion and its implications for genetic understanding.

March 4, 2026Journal of Clinical Neuromuscular Disease0 citations

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Respiratory Onset Amyotrophic Lateral Sclerosis in a Patient With C9orf72 Expansion

RHReece M. Hass SRSandra Reiter-Campeau RLRuple S. Laughlin

Key Points

To describe a case of respiratory-onset amyotrophic lateral sclerosis associated with a C9orf72 expansion and its implications for genetic understanding.
Case report of a patient with respiratory-onset ALS
Genetic testing for C9orf72 expansion conducted
Literature review of related ALS variants
Identified respiratory-onset ALS in a patient with C9orf72 expansion
Expanded understanding of phenotypes associated with C9orf72 mutations
Highlighted the need for genetic evaluations in ALS cases

Abstract

Respiratory-onset amyotrophic lateral sclerosis (ALS) is uncommon, accounting for less than 5% of all patients with ALS. Familial ALS is also uncommon, with the most common variant being related to a C9orf72 hexanucleotide repeat expansion. Respiratory-onset ALS in familial ALS is rare, with few cases discussed in the literature related to ERBB4, SOD1, and FUS variants. Here we present a case of respiratory-onset ALS related to a C9orf72 repeat expansion, expanding the spectrum of associated phenotypes associated with C9orf72 expansions and highlighting the importance of genetic testing in patients living with ALS.

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Cite This Study

Hass et al. (Sun,) studied this question.

synapsesocial.com/papers/69a7ccd5d48f933b5eed8a15 https://doi.org/https://doi.org/10.1097/cnd.0000000000000556

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